Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3998
Gene name Gene Name - the full gene name approved by the HGNC.
Lectin, mannose binding 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LMAN1
Synonyms (NCBI Gene) Gene synonyms aliases
ERGIC-53, ERGIC53, F5F8D, FMFD1, MCFD1, MR60, gp58
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.32
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The prot
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121909253 A>G Pathogenic Initiator codon variant, missense variant
rs183873209 T>A,C Likely-pathogenic Stop gained, coding sequence variant, missense variant
rs869312030 ->C Pathogenic Coding sequence variant, frameshift variant
rs869312031 A>G Pathogenic Splice donor variant
rs869312032 G>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024823 hsa-miR-215-5p Microarray 19074876
MIRT026376 hsa-miR-192-5p Microarray 19074876
MIRT040889 hsa-miR-18a-3p CLASH 23622248
MIRT664990 hsa-miR-495-3p HITS-CLIP 23824327
MIRT664988 hsa-miR-5688 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA 21873635
GO:0005515 Function Protein binding IPI 9774442, 16304051, 17805346, 17971482, 18287528, 19787799, 20138881, 20142513, 22337587, 24806965
GO:0005537 Function Mannose binding IBA 21873635
GO:0005783 Component Endoplasmic reticulum IDA 19401338
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601567 6631 ENSG00000074695
Protein
UniProt ID P49257
Protein name Protein ERGIC-53 (ER-Golgi intermediate compartment 53 kDa protein) (Gp58) (Intracellular mannose-specific lectin MR60) (Lectin mannose-binding 1)
Protein function Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific
PDB 3A4U , 3LCP , 3WHT , 3WHU , 3WNX , 4GKX , 4GKY , 4YGB , 4YGC , 4YGD , 4YGE , 8JP4 , 8JP5 , 8JP6 , 8JP7 , 8JP8 , 8JP9 , 8JPG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03388 Lectin_leg-like 44 269 Legume-like lectin family Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:13130098}.
Sequence
MAGSRQRGLRARVRPLFCALLLSLGRFVRGDGVGGDPAVALPHRRFEYKYSFKGPHLVQS
DGTVPFWAHAGNAIPSSDQIRVAPSLKSQRGSVWTKTKAAFENWEVEVTFRVTGRGRIGA
DGLAIWYAENQGLEGPVFGSADLWNGVGIFFDSFDNDGKKNNPAIVIIGNNGQIHYDHQN
DGASQALASCQRDFRNKPYPVRAKITYYQNTLTVMINNGFTPDKNDYEFCAKVENMIIPA
QGHFGISAATGGLADDHDVLSFLTFQLTE
PGKEPPTPDKEISEKEKEKYQEEFEHFQQEL
DKKKEEFQKGHPDLQGQPAEEIFESVGDRELRQVFEGQNRIHLEIKQLNRQLDMILDEQR
RYVSSLTEEISKRGAGMPGQHGQITQQELDTVVKTQHEILRQVNEMKNSMSETVRLVSGM
QHPGSAGGVYETTQHFIDIKEHLHIVKRDIDNLVQRNMPSNEKPKCPELPPFPSCLSTVH
FIIFVVVQTVLFIGYIMYRSQQEAAAKKFF
Sequence length 510
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Protein processing in endoplasmic reticulum   COPII-mediated vesicle transport
Cargo concentration in the ER
Transport to the Golgi and subsequent modification
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Factor v deficiency Factor V deficiency rs2101818393, rs773569662, rs2101829195, rs118203907, rs118203908, rs118203909, rs2101810760, rs118203910, rs387906286, rs387906287, rs1253799389, rs1294221028, rs1558461545, rs137852913, rs137852914
View all (11 more)
Unknown
Disease term Disease name Evidence References Source
Combined deficiency of factor V and factor VIII factor V and factor VIII, combined deficiency of, type 1 GenCC
Combined Deficiency Of Factor V And Factor VIII combined deficiency of factor V and factor VIII GenCC
Associations from Text Mining
Disease Name Relationship Type References
Blood Coagulation Disorders Associate 10090934
Blood Coagulation Disorders Inherited Associate 10090934
Carcinoma Squamous Cell Associate 27765924
Factor V Deficiency Associate 20138881
Factors VIII IX And XI Combined Deficiency of Associate 10551804, 17971482, 9546392
Familial Multiple Coagulation Factor Deficiency I Associate 10090934, 10090935, 14629470, 15876275, 16044454, 16304051, 18056485, 19787799, 20138881, 20142513, 20460353, 32170195, 36116005, 9546392
Familial Multiple Coagulation Factor Deficiency I Stimulate 20460353
Hemophilia A Associate 16044454, 18056485, 19787799, 20138881
Hemorrhage Associate 10551804, 14629470
Immunologic Deficiency Syndromes Associate 23557496